Canonical Allele Identifier: CA368057029

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031585C>G (hg19) ; chr7:g.87402269C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402269C>G , CM000669.2:g.87402269C>G	GRCh38
NC_000007.13:g.87031585C>G , CM000669.1:g.87031585C>G	GRCh37
NC_000007.12:g.86869521C>G	NCBI36
NG_007118.1:g.83164G>C
NG_007118.2:g.83164G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3667G>C	ENSP00000352135.3:p.Gly1223Arg
ENST00000649586.2:c.3667G>C MANE Select	ENSP00000496956.2:p.Gly1223Arg
ENST00000265723.8:c.3688G>C	ENSP00000265723.4:p.Gly1230Arg
ENST00000358400.7:c.3526G>C	ENSP00000351172.3:p.Gly1176Arg
ENST00000359206.7:c.3667G>C	ENSP00000352135.3:p.Gly1223Arg
ENST00000440025.1:c.101G>C
ENST00000453593.5:c.3526G>C	ENSP00000392983.1:p.Gly1176Arg
ENST00000467983.1:n.279G>C
NM_000443.3:c.3667G>C	NP_000434.1:p.Gly1223Arg
NM_018849.2:c.3688G>C	NP_061337.1:p.Gly1230Arg
NM_018850.2:c.3526G>C	NP_061338.1:p.Gly1176Arg
XM_011516308.1:c.3688G>C	XP_011514610.1:p.Gly1230Arg
XM_011516309.1:c.3667G>C	XP_011514611.1:p.Gly1223Arg
XM_011516310.1:c.3583G>C	XP_011514612.1:p.Gly1195Arg
XM_011516311.1:c.3559G>C	XP_011514613.1:p.Gly1187Arg
XM_011516312.1:c.3547G>C	XP_011514614.1:p.Gly1183Arg
XM_011516313.1:c.3526G>C	XP_011514615.1:p.Gly1176Arg
XM_011516314.1:c.3709G>C	XP_011514616.1:p.Gly1237Arg
XM_011516315.1:c.3028G>C	XP_011514617.1:p.Gly1010Arg
XM_011516308.3:c.3958G>C	XP_011514610.3:p.Gly1320Arg
XM_011516309.3:c.3937G>C	XP_011514611.3:p.Gly1313Arg
XM_011516310.3:c.3853G>C	XP_011514612.3:p.Gly1285Arg
XM_011516311.3:c.3829G>C	XP_011514613.3:p.Gly1277Arg
XM_011516312.3:c.3817G>C	XP_011514614.3:p.Gly1273Arg
XM_011516313.3:c.3796G>C	XP_011514615.2:p.Gly1266Arg
XM_011516315.3:c.3028G>C	XP_011514617.2:p.Gly1010Arg
XM_017012323.2:c.3688G>C	XP_016867812.1:p.Gly1230Arg
XR_001744809.2:n.4196G>C
NM_000443.4:c.3667G>C MANE Select	NP_000434.1:p.Gly1223Arg
NM_018849.3:c.3688G>C	NP_061337.1:p.Gly1230Arg
NM_018850.3:c.3526G>C	NP_061338.1:p.Gly1176Arg